Anti-PUF60 antibodies were nonspecific for myositis, since they could be detected in other rheumatic diseases.

Authors report the identification of 25 DNVs out of which five were classified as pathogenic or likely pathogenic. A two base pair deletion was identified in the PUF60 gene. Result adds to the growing evidence that PUF60 is responsible for the majority of the symptoms reported for carriers of a microdeletion across this region.

The present report describes a de novo missense mutation in PUF60, detected in a boy with multiple congenital anomalies.

PUF60 auto-antibodies are detected in the sera of early-stage colon cancer patients and level decreases after surgery.

These results confirm that PUF60 is a major driver for the developmental, craniofacial, skeletal and cardiac phenotypes associated with the 8q24.3 microdeletion

High FBP-interacting repressor expression is associated with hepatocellular carcinoma.

The interaction between SAP155 and FIR/FIRDeltaexon2 not only integrates cell-cycle progression and c-Myc transcription by modifying P27 and P89 expression.

Haploinsufficiency of each of SCRIB or PUF60 contribute uniquely to specific endophenotypes (e.g., coloboma, heart defects), and binary interaction potentially exacerbates other aspects of the clinical pathology of individuals with 8q24.3 deletion.

Circulating FIR variant mRNA in the peripheral blood of cancer patients were significantly overexpressed compared to that in healthy volunteers.

FIR is monomeric in solution but dimerizes upon DNA binding; DNA-induced dimerization is mediated by FIR's RNA recognition motif.

study identified PUF60 as a factor that promotes splicing of an intron with a weak 3' splice-site; demonstrated that PUF60 can functionally substitute for U2AF(65)in vitro, but splicing is strongly stimulated by the presence of both proteins

Suppression of scrib and puf60 in zebrafish leads to reduction in body length, small head size, and craniofacial defects.

PUF60 Protein Überblick

Protein Überblick

This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.